Human Craniofacial Genetics

It is well-documented that craniofacial anomalies are among the most common congenital defects. Research on the genetic basis for these anomalies has successfully identified several of the major genes involved in craniofacial development. One cannot help but be impressed by the wealth of detailed genetic information that is rapidly becoming available for human dental and cranial disorders. It is also clear, however, that advances in the genetics of craniofacial disorders have not provided unambiguous answers to important questions regarding the genetic architecture of normal and abnormal craniofacial variation. My current work seeks to elucidate the genetic underpinnings of anatomical variation of the human and non-human craniofacial complex.

Dental casting, Jiri, Nepal

Two current projects are investigating the genetic architecture of craniofacial variation in humans. Both projects take simple measures describing the morphology in the area of interest. These measures are subjected to quantitative genetic analyses that allow us to identify 1) the relative influence genes have on a trait; 2) the proportion of which two traits are controlled by the same gene or sets of genes; and 3) to begin to localize the chromosomal regions harboring genes influencing variation.

The first project examines traits identified on lateral cephalographs of participants in the Fels Longitudinal Study. The Fels Longitudinal Study is the worlds largest, and longest running study of human growth, development, and body composition. Measurements describing the basicranium, face, and neurocranium are taken from the lateral cephalographs available in the study archives. The second project examines, in detail, the morphology of the dentition and the jaws in a human population from the small village of Jiri, Nepal. This population has limited access to orthodontic procedures and, thus, provides a unique opportunity to study the morphological integration of this region.

References

Recent publications

Sherwood, R.J., K.P. McNulty, D.L. Duren, Quantitative genetic analysis of morphometric data: challenges and consideration. (Invited paper for symposium: Modern Morphometrics in Physical Anthropology II, dedicated to the memory of Dr. Robert R. Sokal. For presentation at the annual meetings of the American Association of Physical Anthropologists. April 9-13, 2013, Knoxville, TN).